Brachydactyly, preaxial, with hallux varus and thumb abduction

Preferred Label : Brachydactyly, preaxial, with hallux varus and thumb abduction;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Christian brachydactyly;

Inheritance : Autosomal dominant;

Prefixed ID : 112450;

Details

Origin ID

112450;

UMLS CUI

C1862162;

Automatic exact mappings (from CISMeF team)
- Brachydactyly preaxial with hallux varus and thumb abduction [MeSH concept]
- brachydactyly-preaxial hallux varus syndrome [DO Concept]
Currated CISMeF NLP mapping
- Brachydactyly and preaxial hallux varus syndrome (disorder) [SNOMED CT concept]
- Brachydactyly-preaxial hallux varus syndrome [ORDO Disease]
- brachydactyly preaxial with hallux varus and thumb abduction [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly-preaxial hallux varus syndrome [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hallux varus [HPO term]
- Hitchhiker thumb [HPO term]
- Hypoplasia of the toes [HPO term]
- Short distal phalanx of finger [HPO term]
- Short hallux [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short thumb [HPO term]
ORDO concept(s)
- Brachydactyly-preaxial hallux varus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly preaxial with hallux varus and thumb abduction [MeSH concept]
- Brachydactyly-preaxial hallux varus syndrome [ORDO Disease]
- brachydactyly preaxial with hallux varus and thumb abduction [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients